Malta family spreading awareness about rare genetic disorder
BALLSTON SPA, N.Y. (NEWS10) -- A family in Ballston Spa is asking for the community's help this June for CDKL5 Deficiency Disorder Awareness Month -- a rare genetic disorder that only about one in 60,000 people are born with, including their six-year-old daughter.
Rian McCann is almost seven years old. Her parents, Danielle and Frank described her as kind, sassy, smart and above all, resilient. Rian was born with CDKL5 Deficiency Disorder -- which prevents her from seeing, walking, talking or eating the way most people do.
"She has cortical visual impairment where she's technically legally blind, she can see she just sees a lot differently than you and I, she has feeding difficulties, so she has a feeding tube where she gets full nutrition and round the clock medications," said her mom Danielle.
Danielle said the disorder went completely undetected during her pregnancy. Rian got officially diagnosed at eight months old, but started having seizures when she was only three months old. With CDKL5 Deficiency Disorder, Rian has spent a lot of time in the hospital. Yet, Danielle said Rian has never given up.
"She is a huge fighter. She was in the PICU for six weeks at Boston's Children's Hospital and I swear we thought we were going to lose her. And this little girl she was intubated for 10 days and she did not want to be intubated, she was fighting that respiratory machine left and right," said Danielle. "The respiratory therapists were like what is going on here, what is this kid doing, she's fully sedated and she's fighting this machine?"
Since Rian can't speak, Danielle said Rian tries to communicate in other ways -- mainly using her eyes and the tone of her babbles.
"Because she cant speak, we are her voices but she says so much with her eyes," said Danielle. "When she's really happy, she'll do like high pitched tones, when she's cranky she'll cry and we know all of her different cries, like right now."
Danielle said the hardest part is not always knowing what Rian wants when she's upset. That's why she and her husband Frank are raising awareness about the disorder with their annual fundraiser. This year, the fundraiser was held from 2 p.m. to 6 p.m. on Sunday at Speckled Pig Brewery in Ballston Spa.
Community members gathered to dine in and purchase raffle tickets for various baskets. Danielle said they raised about $6,500 which will go toward their monthly trips to Boston Children's Hospital, and partially donated to the International Foundation for CDKL5 Deficiency Disorder.
"The hope would be to raise awareness and hopefully one day we can find a cure for kids in the future. We know that the cure is probably not going to happen for her," said Frank.
"I'm just hoping that the people who have never met her have came today and have gotten a glimpse into our lives gotten to say hello and have gotten a smile out of her," said Danielle.
For more information on the disorder and Rian's story, visit their Facebook page. Anyone interested in donating or learning more, can email rally4rian@gmail.com.